Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization.
An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. DNA analysis using X chromosomal DNA sequences suggest that the supernumerary X chromosome in the patient resulted from maternal nondisjunction during meiosis II. The M II error thereby provides the basis for homozygosity of a mutation in the androgen receptor locus.
Müller
U
U
Division of Genetics, Children's Hospital, Boston, MA 02115.
Schneider
N R
NR
Marks
J F
JF
Kupke
K G
KG
Wilson
G N
GN
D013734:Androgen-Insensitivity Syndrome / Q000209:etiology / Q000235:genetics*; D002648:Child; D015342:DNA Probes; D005260:Female; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000209:etiology / Q000235:genetics*; D008297:Male; D008540:Meiosis; D009630:Nondisjunction, Genetic; D009693:Nucleic Acid Hybridization; D014960:X Chromosome
D015342:DNA Probes